Incidental Mutation 'IGL01317:Tbx20'
| ID |
73907 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbx20
|
| Ensembl Gene |
ENSMUSG00000031965 |
| Gene Name |
T-box 20 |
| Synonyms |
Tbx12, 9430010M06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
24632108-24685580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24681051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 147
(V147A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052946]
[ENSMUST00000166018]
|
| AlphaFold |
Q9ES03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052946
AA Change: V147A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: V147A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
95 |
N/A |
INTRINSIC |
|
TBOX
|
98 |
292 |
1.08e-122 |
SMART |
|
low complexity region
|
339 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166018
AA Change: V147A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965
AA Change: V147A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
95 |
N/A |
INTRINSIC |
|
TBOX
|
98 |
292 |
1.08e-122 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217597
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,362,597 (GRCm39) |
D609E |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,968,104 (GRCm39) |
I352V |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,963,406 (GRCm39) |
S605R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,260 (GRCm39) |
K748E |
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,285,472 (GRCm39) |
S255P |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,314,172 (GRCm39) |
D1124V |
possibly damaging |
Het |
| Cask |
C |
T |
X: 13,388,499 (GRCm39) |
E83K |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,078 (GRCm39) |
Y670C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,244,037 (GRCm39) |
Y1343H |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,046,775 (GRCm39) |
V396D |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,135 (GRCm39) |
T203A |
probably benign |
Het |
| Dido1 |
A |
C |
2: 180,313,550 (GRCm39) |
N907K |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,642,921 (GRCm39) |
D246E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,071,486 (GRCm39) |
H303R |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,321,914 (GRCm39) |
Y8N |
probably damaging |
Het |
| Efhc2 |
C |
T |
X: 17,071,198 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,203,663 (GRCm39) |
V215E |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,580,153 (GRCm39) |
D684G |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,344,316 (GRCm39) |
M22K |
probably damaging |
Het |
| Gdpd4 |
A |
C |
7: 97,647,465 (GRCm39) |
M371L |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,479,488 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,413,908 (GRCm39) |
W162R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,053,078 (GRCm39) |
D250V |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,153,005 (GRCm39) |
C897* |
probably null |
Het |
| Itprid1 |
G |
T |
6: 55,944,790 (GRCm39) |
A504S |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,727,339 (GRCm39) |
*631Q |
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,693,694 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,125,696 (GRCm39) |
E2951V |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,845,455 (GRCm39) |
Q1944R |
probably benign |
Het |
| Mmp14 |
A |
G |
14: 54,673,247 (GRCm39) |
T52A |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,372 (GRCm39) |
N102K |
probably benign |
Het |
| Mrpl28 |
G |
A |
17: 26,344,489 (GRCm39) |
G205D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,493,230 (GRCm39) |
|
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,921,837 (GRCm39) |
N249S |
probably benign |
Het |
| Or4f57 |
T |
A |
2: 111,790,620 (GRCm39) |
H266L |
possibly damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,170,131 (GRCm39) |
V882E |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,617,324 (GRCm39) |
Y1073D |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,826,685 (GRCm39) |
D480E |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,525,818 (GRCm39) |
G1003S |
probably damaging |
Het |
| Rrh |
A |
C |
3: 129,616,074 (GRCm39) |
F20V |
possibly damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,965,282 (GRCm39) |
I15T |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,889 (GRCm39) |
M493K |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,456,666 (GRCm39) |
L32F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Tbc1d10a |
A |
T |
11: 4,162,826 (GRCm39) |
Y223F |
probably benign |
Het |
| Tmem63c |
A |
T |
12: 87,118,770 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
C |
A |
10: 105,249,646 (GRCm39) |
R29L |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,018,700 (GRCm39) |
M1236L |
probably benign |
Het |
| Unc119 |
T |
A |
11: 78,238,052 (GRCm39) |
C12S |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,839,787 (GRCm39) |
M1919T |
probably benign |
Het |
| Zmat4 |
C |
A |
8: 24,392,185 (GRCm39) |
T47K |
probably benign |
Het |
|
| Other mutations in Tbx20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Tbx20
|
APN |
9 |
24,670,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00572:Tbx20
|
APN |
9 |
24,636,984 (GRCm39) |
missense |
probably benign |
|
|
IGL01016:Tbx20
|
APN |
9 |
24,661,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Tbx20
|
APN |
9 |
24,685,009 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02690:Tbx20
|
APN |
9 |
24,685,033 (GRCm39) |
missense |
probably benign |
0.27 |
|
BB006:Tbx20
|
UTSW |
9 |
24,637,059 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
BB016:Tbx20
|
UTSW |
9 |
24,637,059 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0853:Tbx20
|
UTSW |
9 |
24,636,908 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0855:Tbx20
|
UTSW |
9 |
24,636,908 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0856:Tbx20
|
UTSW |
9 |
24,636,908 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1781:Tbx20
|
UTSW |
9 |
24,636,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1840:Tbx20
|
UTSW |
9 |
24,636,972 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1981:Tbx20
|
UTSW |
9 |
24,682,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2063:Tbx20
|
UTSW |
9 |
24,681,067 (GRCm39) |
nonsense |
probably null |
|
|
R2357:Tbx20
|
UTSW |
9 |
24,681,072 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4166:Tbx20
|
UTSW |
9 |
24,681,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Tbx20
|
UTSW |
9 |
24,637,010 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4904:Tbx20
|
UTSW |
9 |
24,670,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5436:Tbx20
|
UTSW |
9 |
24,681,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5799:Tbx20
|
UTSW |
9 |
24,636,816 (GRCm39) |
nonsense |
probably null |
|
|
R5898:Tbx20
|
UTSW |
9 |
24,670,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Tbx20
|
UTSW |
9 |
24,636,779 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6962:Tbx20
|
UTSW |
9 |
24,681,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Tbx20
|
UTSW |
9 |
24,661,573 (GRCm39) |
splice site |
probably null |
|
|
R7731:Tbx20
|
UTSW |
9 |
24,681,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Tbx20
|
UTSW |
9 |
24,651,581 (GRCm39) |
splice site |
probably null |
|
|
R7832:Tbx20
|
UTSW |
9 |
24,685,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7929:Tbx20
|
UTSW |
9 |
24,637,059 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7982:Tbx20
|
UTSW |
9 |
24,685,220 (GRCm39) |
unclassified |
probably benign |
|
|
R8110:Tbx20
|
UTSW |
9 |
24,636,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Tbx20
|
UTSW |
9 |
24,681,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Tbx20
|
UTSW |
9 |
24,681,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation